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Article

Genetic and phenotypic variability in adult patients with Niemann Pick type C from Serbia: single-center experience.

Journal of neurology - 1 Jun 2022

Kresojević Nikola, Dobričić Valerija, Lukić Milica Ječmenica, Tomić Aleksandra, Petrović Igor, Dragašević Nataša, Perović Ivana, Marjanović Ana, Branković Marija, Janković Milena, Novaković Ivana, Svetel Marina, Kostić Vladimir S

Abstract excerpt

BACKGROUND: Niemann Pick type C is an autosomal recessive lysosomal storage disorder caused by mutations in NPC1 and NPC2 genes. It is a neuro-visceral disease with a heterogeneous phenotype. Clinical features depend on the age at onset. Visceral manifestations are more prominent in the early onset (infantile) form, while neuro-psychiatric symptoms are more prominent in the late disease onset (juvenile and adult...

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PMID: 34993563
DOI: 10.1007/s00415-021-10918-7

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